A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.
Bateman
J F
JF
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.
Chiodo
A A
AA
Weng
Y M
YM
Chan
D
D
Haan
E
E
D019943:Amino Acid Substitution; D001120:Arginine; D003094:Collagen / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000235:genetics* / Q000473:pathology; D005998:Glycine; D006801:Humans; D008297:Male; D009154:Mutation; D017354:Point Mutation; D012333:RNA, Messenger / Q000235:genetics
D018076:DNA, Complementary; D012333:RNA, Messenger; D003094:Collagen; D001120:Arginine; D005998:Glycine